DNAAF6 (dynein axonemal assembly factor 6)

2014-11-01  

Identity

HGNC
DNAAF6
LOCATION
Xq22.3
LOCUSID
139212
ALIAS
CILD36,CXorf41,NYSAR97,PIH1D3,TWISTER

Other Information

Locus ID:

NCBI: 139212
MIM: 300933
HGNC: 28570
Ensembl: ENSG00000080572

Variants:

dbSNP: 139212
ClinVar: 139212
TCGA: ENSG00000080572
COSMIC: DNAAF6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080572ENST00000336387Q9NQM4
ENSG00000080572ENST00000372453Q9NQM4
ENSG00000080572ENST00000535523Q9NQM4

References

Pubmed IDYearTitleCitations
384088452024Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.0
384088452024Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.0
331064612021Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome.5
341457932021Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk.3
331064612021Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome.5
341457932021Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk.3
321704932020Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.8
328205212020[Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia].1
321704932020Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.8
328205212020[Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia].1
280416442017Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.72
281767942017X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.71
280416442017Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.72
281767942017X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.71

Citation

Dessen P

DNAAF6 (dynein axonemal assembly factor 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71915/teaching-explorer/css/lib/js/_common.js